Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000607617 | SCV000710886 | likely pathogenic | Rare genetic deafness | 2016-05-02 | criteria provided, single submitter | clinical testing | The p.Glu104Lys variant in TMPRSS3 has been reported in the homozygous state in 1 Pakistani individual with hearing loss and segregated in 6 affected relatives whose parents were consanguineous (Lee 2012). This variant has been identified i n 2/66672 of European chromosomes by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs373058706); however, its frequency is low e nough to be consistent with a recessive carrier frequency. In summary, although additional studies are required to fully establish its clinical significance, t his variant is likely pathogenic for autosomal recessive nonsyndromic hearing lo ss. |
The Shared Resource Centre "Genome", |
RCV002461909 | SCV002756437 | pathogenic | Autosomal recessive nonsyndromic hearing loss 8 | 2022-11-10 | criteria provided, single submitter | clinical testing |